Hereditary haemorrhagic telangiectasia: diagnosis, screening and management

Pamela L. Karas; Pak Leng Cheong; Tsu-Hui Hubert Low; Edmund M. Lau

Hereditary haemorrhagic telangiectasia: diagnosis, screening and management

Pamela L. Karas, Pak Leng Cheong, Tsu-Hui Hubert Low, Edmund M. Lau

Macquarie Medical School

Research output: Contribution to journal › Review article › peer-review

Abstract

Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder of abnormal vasculature, characterised by telangiectasias and arteriovenous malformations affecting specific sites. This disorder is underdiagnosed, and both patients and affected family members require screening and treatment to manage the end-organ complications that may occur.

Original language	English
Pages (from-to)	45-52
Number of pages	7
Journal	Medicine Today
Volume	24
Issue number	5
Publication status	Published - 2023

Cite this

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title = "Hereditary haemorrhagic telangiectasia: diagnosis, screening and management",

abstract = "Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder of abnormal vasculature, characterised by telangiectasias and arteriovenous malformations affecting specific sites. This disorder is underdiagnosed, and both patients and affected family members require screening and treatment to manage the end-organ complications that may occur.",

author = "Karas, {Pamela L.} and Cheong, {Pak Leng} and Low, {Tsu-Hui Hubert} and Lau, {Edmund M.}",

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T1 - Hereditary haemorrhagic telangiectasia

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AU - Karas, Pamela L.

AU - Cheong, Pak Leng

AU - Low, Tsu-Hui Hubert

AU - Lau, Edmund M.

PY - 2023

Y1 - 2023

N2 - Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder of abnormal vasculature, characterised by telangiectasias and arteriovenous malformations affecting specific sites. This disorder is underdiagnosed, and both patients and affected family members require screening and treatment to manage the end-organ complications that may occur.

AB - Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder of abnormal vasculature, characterised by telangiectasias and arteriovenous malformations affecting specific sites. This disorder is underdiagnosed, and both patients and affected family members require screening and treatment to manage the end-organ complications that may occur.

UR - http://www.scopus.com/inward/record.url?scp=85166277377&partnerID=8YFLogxK

M3 - Review article

AN - SCOPUS:85166277377

SN - 1443-430X

VL - 24

SP - 45

EP - 52

JO - Medicine Today

JF - Medicine Today

IS - 5

ER -

Hereditary haemorrhagic telangiectasia: diagnosis, screening and management

Abstract

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